Linked Data
ClinVar Variation Id:
848399
ClinVar RCV Id:
RCV001052147
dbSNP Id:
rs231399
ExAC:
4:2831383 T / A
gnomAD v2:
4-2831383-T-A
gnomAD v3:
4-2829656-T-A
gnomAD v4:
4-2829656-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2829656T>A , CM000666.2:g.2829656T>A | GRCh38 |
| NC_000004.11:g.2831383T>A , CM000666.1:g.2831383T>A | GRCh37 |
| NC_000004.10:g.2801181T>A | NCBI36 |
| NG_011609.1:g.41634T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.834T>A | ENSP00000403231.3:p.Ala278= | |
| ENST00000503393.8:c.750T>A MANE Select | ENSP00000422168.3:p.Ala250= | |
| ENST00000511747.6:c.921T>A | ENSP00000424846.2:p.Ala307= | |
| ENST00000356331.9:c.750T>A | ENSP00000348685.5:p.Ala250= | |
| ENST00000435136.6:c.750T>A | ENSP00000403231.2:p.Ala250= | |
| ENST00000442312.6:c.834T>A | ENSP00000388152.2:p.Ala278= | |
| ENST00000452765.6:c.750T>A | ENSP00000409746.2:p.Ala250= | |
| ENST00000503393.6:c.921T>A | ENSP00000422168.2:p.Ala307= | |
| ENST00000504450.1:n.539-1915T>A | ||
| ENST00000505941.5:n.768T>A | ||
| ENST00000510204.5:n.1227T>A | ||
| ENST00000511747.5:c.750T>A | ENSP00000424846.1:p.Ala250= | |
| ENST00000515183.5:n.488T>A | ||
| ENST00000515737.5:c.*635T>A | ENSP00000422605.1:n.*635T>A | |
| ENST00000515802.5:n.856T>A | ||
| NM_001122681.1:c.750T>A | NP_001116153.1:p.Ala250= | |
| NM_001145855.1:c.834T>A | NP_001139327.1:p.Ala278= | |
| NM_001145856.1:c.921T>A | NP_001139328.1:p.Ala307= | |
| NM_003023.4:c.750T>A | NP_003014.3:p.Ala250= | |
| XM_005247998.3:c.759T>A | XP_005248055.1:p.Ala253= | |
| XM_005247999.3:c.750T>A | XP_005248056.1:p.Ala250= | |
| XM_011513547.1:c.921T>A | XP_011511849.1:p.Ala307= | |
| XM_011513548.1:c.750T>A | XP_011511850.1:p.Ala250= | |
| XM_011513549.1:c.750T>A | XP_011511851.1:p.Ala250= | |
| XM_011513550.1:c.750T>A | XP_011511852.1:p.Ala250= | |
| XM_011513551.1:c.750T>A | XP_011511853.1:p.Ala250= | |
| XM_011513552.1:c.579T>A | XP_011511854.1:p.Ala193= | |
| XM_011513553.1:c.387T>A | XP_011511855.1:p.Ala129= | |
| XM_011513554.1:c.587-1915T>A | XP_011511856.1:n.587-1915T>A | |
| XM_011513555.1:c.587-1915T>A | XP_011511857.1:n.587-1915T>A | |
| XM_011513556.1:c.587-1915T>A | XP_011511858.1:n.587-1915T>A | |
| XR_924990.1:n.754T>A | ||
| NM_001122681.2:c.750T>A MANE Select | NP_001116153.1:p.Ala250= | |
| NM_001145855.2:c.834T>A | NP_001139327.1:p.Ala278= | |
| NM_001145856.2:c.921T>A | NP_001139328.1:p.Ala307= |